JAKMIP2

Summary

JAKMIP2 (janus kinase and microtubule interacting protein 2, HGNC:29067) is a protein-coding gene on chromosome 5q32, encoding Janus kinase and microtubule-interacting protein 2 (Q96AA8).

The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 9832 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_001270941

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29067
Approved symbol	JAKMIP2
Name	janus kinase and microtubule interacting protein 2
Location	5q32
Locus type	gene with protein product
Status	Approved
Aliases	JAMIP2, KIAA0555
Ensembl gene	ENSG00000176049
Ensembl biotype	protein_coding
OMIM	611197
Entrez	9832

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 retained_intron

ENST00000265272, ENST00000333010, ENST00000504845, ENST00000507343, ENST00000507386, ENST00000616793, ENST00000908873, ENST00000920966, ENST00000959520

RefSeq mRNA: 4 — MANE Select: NM_001270941 NM_001270934, NM_001270941, NM_001282282, NM_014790

CCDS: CCDS4285, CCDS59495, CCDS64284, CCDS75352

Canonical transcript exons

ENST00000616793 — 22 exons

Exon	Start	End
ENSE00003498378	147641708	147641764
ENSE00003549329	147648376	147648474
ENSE00003606817	147639632	147639760
ENSE00003607575	147636222	147636284
ENSE00003656414	147636965	147637048
ENSE00003731526	147782456	147782728
ENSE00003734655	147585438	147591686
ENSE00003889678	147644850	147644996
ENSE00003889985	147629693	147629746
ENSE00003890386	147631413	147631511
ENSE00003890553	147660948	147661445
ENSE00003890572	147632680	147632778
ENSE00003890591	147620666	147620743
ENSE00003891561	147644058	147644198
ENSE00003892629	147617911	147618114
ENSE00003893306	147628751	147628816
ENSE00003893823	147640704	147640823
ENSE00003894034	147601741	147601811
ENSE00003894442	147623621	147623689
ENSE00003894491	147650338	147650547
ENSE00003894823	147671678	147671954
ENSE00003895921	147612306	147612371

Expression profiles

Bgee: expression breadth ubiquitous, 200 present calls, max score 95.25.

FANTOM5 (CAGE): breadth broad, TPM avg 7.4064 / max 308.5227, expressed in 827 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64072	4.5139	720
64070	1.5086	530
64069	0.6258	325
64071	0.4685	272
64068	0.2895	142

Top tissues by expression

286 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	95.25	gold quality
cortical plate	UBERON:0005343	93.64	gold quality
ventricular zone	UBERON:0003053	89.31	gold quality
sural nerve	UBERON:0015488	88.91	gold quality
middle temporal gyrus	UBERON:0002771	88.60	gold quality
ganglionic eminence	UBERON:0004023	87.40	gold quality
corpus callosum	UBERON:0002336	86.89	gold quality
entorhinal cortex	UBERON:0002728	86.53	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	86.53	silver quality
prefrontal cortex	UBERON:0000451	85.62	gold quality
postcentral gyrus	UBERON:0002581	85.61	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.14	gold quality
inferior olivary complex	UBERON:0002127	84.66	silver quality
superior frontal gyrus	UBERON:0002661	84.50	gold quality
primary visual cortex	UBERON:0002436	84.25	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.03	gold quality
cerebellar hemisphere	UBERON:0002245	83.99	gold quality
orbitofrontal cortex	UBERON:0004167	83.98	gold quality
cerebellar cortex	UBERON:0002129	83.97	gold quality
parietal lobe	UBERON:0001872	83.92	gold quality
cerebellum	UBERON:0002037	83.72	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.70	gold quality
right frontal lobe	UBERON:0002810	83.65	gold quality
Ammon’s horn	UBERON:0001954	83.57	gold quality
temporal lobe	UBERON:0001871	83.55	gold quality
cerebral cortex	UBERON:0000956	83.50	gold quality
frontal cortex	UBERON:0001870	83.40	gold quality
neocortex	UBERON:0001950	83.38	gold quality
substantia nigra	UBERON:0002038	83.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.15	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

205 targeting JAKMIP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797

Literature-anchored findings (GeneRIF, showing 2)

• NECC 1 & 2 proteins primarily expressed in (neuro)endocrine tissues in vertebrates thus supporting a role for these proteins in the regulated secretory pathway. (PMID:17572408)
• individuals with SNP62 (rs12653715 G/C) who were GG homozygous had a significantly increased risk of Graves’ disease. The transmission disequilibrium test (TDT) indicated that SNP62 (rs12653715) and SNP63 (rs12653081) loci in the Janus kinase and microtubule interacting protein 2 (JAKMIP2) gene showed dominant transmission from heterozygous parents to the affected offspring. (PMID:30796769)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	jakmip2	ENSDARG00000053547
mus_musculus	Jakmip2	ENSMUSG00000024502
rattus_norvegicus	Jakmip2	ENSRNOG00000019159

Paralogs (2): JAKMIP1 (ENSG00000152969), JAKMIP3 (ENSG00000188385)

Protein

Protein identifiers

Janus kinase and microtubule-interacting protein 2 — Q96AA8 (reviewed: Q96AA8)

Alternative names: CTCL tumor antigen HD-CL-04, Neuroendocrine long coiled-coil protein 1

All UniProt accessions (1): Q96AA8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Golgi apparatus.

Tissue specificity. Highly expressed in brain, moderately expressed in thymus, spleen and lung, and weakly expressed in kidney, liver and peripheral blood lymphocytes. Also expressed in adrenal and pituitary glands, as well as testis.

Similarity. Belongs to the JAKMIP family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96AA8-1	1	yes
Q96AA8-2	2
Q96AA8-3	3
Q96AA8-4	4

RefSeq proteins (4): NP_001257863, NP_001257870, NP_001269211, NP_055605 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024836	JAKMIP	Family
IPR031994	JAKMIP_C	Domain

Pfam: PF16034

UniProt features (15 total): coiled-coil region 6, splice variant 3, region of interest 2, sequence variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96AA8-F1	79.86	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 176 (showing top): RORA1_01, MODULE_545, GCANCTGNY_MYOD_Q6, AAGCCAT_MIR135A_MIR135B, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, NKX61_01, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, TCF11_01, PU1_Q6, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS

GO Biological Process (0):

GO Molecular Function (3): microtubule binding (GO:0008017), kinase binding (GO:0019900), protein binding (GO:0005515)

GO Cellular Component (1): Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tubulin binding	1
enzyme binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

452 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JAKMIP2	FSD1	Q9BTV5	509
JAKMIP2	OR4E1	P0C645	507
JAKMIP2	ZNF831	Q5JPB2	490
JAKMIP2	STK32A	Q8WU08	479
JAKMIP2	PTK2	Q05397	468
JAKMIP2	PLBD1	Q6P4A8	462
JAKMIP2	TYK2	P29597	436
JAKMIP2	GABBR2	O75899	424
JAKMIP2	GRAP2	O75791	422
JAKMIP2	SCPEP1	Q9HB40	399
JAKMIP2	ZNF790	Q6PG37	395
JAKMIP2	TUBB3	Q13509	385
JAKMIP2	CAPSL	Q8WWF8	379
JAKMIP2	KIAA1143	Q96AT1	374
JAKMIP2	OR13C8	Q8NGS7	370
JAKMIP2	SH3RF2	Q8TEC5	370

IntAct

84 interactions, top by confidence:

A	B	Type	Score
PRPF31	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.790
JAKMIP2	PRPF31	psi-mi:“MI:0915”(physical association)	0.790
JAKMIP2	CLIP4	psi-mi:“MI:0915”(physical association)	0.740
CLIP4	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.740
PIN1	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.670
JAKMIP2	PIN1	psi-mi:“MI:0915”(physical association)	0.670
JAKMIP2		psi-mi:“MI:0915”(physical association)	0.560
JAKMIP2	ELOA	psi-mi:“MI:0915”(physical association)	0.560
CLASP1	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560
JAKMIP2	SMARCE1	psi-mi:“MI:0915”(physical association)	0.560
JAKMIP2	HGS	psi-mi:“MI:0915”(physical association)	0.560
NAB2	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560
EFHC2	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560
MRPL11	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560
ELOA	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560
SMARCE1	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560
HGS	JAKMIP2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (30): JAKMIP2 (Two-hybrid), JAKMIP2 (Two-hybrid), JAKMIP2 (Two-hybrid), JAKMIP2 (Two-hybrid), JAKMIP2 (Two-hybrid), JAKMIP2 (Two-hybrid), CLASP1 (Two-hybrid), PRPF31 (Two-hybrid), KIF9 (Two-hybrid), MRPL11 (Two-hybrid), CLIP4 (Two-hybrid), EFHC2 (Two-hybrid), TRIM29 (Two-hybrid), JAKMIP2 (Two-hybrid), JAKMIP2 (Two-hybrid)

ESM2 similar proteins: A0A287B8J2, A6QR54, A8IQT2, A8WUP2, C5E2E7, C9ZN16, G5ECG0, O08788, O16844, O48791, O55156, P13496, P28023, P35458, P45970, P54623, Q01397, Q14203, Q17695, Q23529, Q292S8, Q2KN93, Q2KN94, Q2KN95, Q2KN96, Q2KN97, Q2KN98, Q2KN99, Q2KNA0, Q2KNA1, Q3SWS9, Q585H6, Q5B993, Q5DTN8, Q5M775, Q5SXY1, Q5VZ66, Q69YQ0, Q6PCJ1, Q75EN7

Diamond homologs: A6QR54, Q3SWS9, Q5DTN8, Q5VZ66, Q8BVL9, Q96AA8, Q96N16

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

79 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3850 predictions. Top by Δscore:

Variant	Effect	Δscore
5:147591589:G:C	donor_gain	1.0000
5:147591685:CT:C	acceptor_gain	1.0000
5:147591687:C:CC	acceptor_gain	1.0000
5:147600218:AGT:A	donor_gain	1.0000
5:147612301:CCTA:C	donor_loss	1.0000
5:147612304:A:AC	donor_gain	1.0000
5:147612305:C:CA	donor_loss	1.0000
5:147612305:C:CC	donor_gain	1.0000
5:147612367:ATTCT:A	acceptor_gain	1.0000
5:147612368:TTCT:T	acceptor_gain	1.0000
5:147612370:CT:C	acceptor_gain	1.0000
5:147612372:C:CA	acceptor_loss	1.0000
5:147612372:C:CC	acceptor_gain	1.0000
5:147618111:TTCT:T	acceptor_gain	1.0000
5:147623690:C:CC	acceptor_gain	1.0000
5:147628813:AATT:A	acceptor_gain	1.0000
5:147628815:TT:T	acceptor_gain	1.0000
5:147628816:TCT:T	acceptor_loss	1.0000
5:147628817:C:CC	acceptor_gain	1.0000
5:147628817:CT:C	acceptor_loss	1.0000
5:147629691:ACC:A	donor_gain	1.0000
5:147629692:CCC:C	donor_gain	1.0000
5:147631522:A:T	acceptor_gain	1.0000
5:147631530:A:AC	acceptor_gain	1.0000
5:147632678:A:AC	donor_gain	1.0000
5:147632679:C:CC	donor_gain	1.0000
5:147632679:CTT:C	donor_gain	1.0000
5:147639629:AAC:A	donor_loss	1.0000
5:147639630:A:C	donor_loss	1.0000
5:147639631:C:CG	donor_loss	1.0000

AlphaMissense

5441 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:147618101:A:G	L719P	1.000
5:147628759:C:G	A663P	1.000
5:147628761:A:G	L662P	1.000
5:147628767:A:G	L660P	1.000
5:147628779:G:T	A656D	1.000
5:147628780:C:G	A656P	1.000
5:147628785:A:C	I654S	1.000
5:147628785:A:G	I654T	1.000
5:147628785:A:T	I654N	1.000
5:147628812:A:G	L645S	1.000
5:147629715:A:G	L636P	1.000
5:147629715:A:T	L636H	1.000
5:147629727:A:G	L632P	1.000
5:147632684:A:G	L591P	1.000
5:147632690:A:G	L589P	1.000
5:147632696:C:G	R587P	1.000
5:147632698:A:C	F586L	1.000
5:147632698:A:T	F586L	1.000
5:147632699:A:C	F586C	1.000
5:147632699:A:G	F586S	1.000
5:147632700:A:G	F586L	1.000
5:147632708:A:G	L583P	1.000
5:147639699:A:G	L488P	1.000
5:147671718:A:G	L30P	1.000
5:147671730:A:G	L26P	1.000
5:147617919:C:G	A780P	0.999
5:147617948:A:G	L770P	0.999
5:147620674:C:G	A712P	0.999
5:147620682:A:G	L709P	0.999
5:147620693:T:A	R705S	0.999

dbSNP variants (sampled 300 via entrez): RS1000017751 (5:147775402 C>T), RS1000023369 (5:147743867 G>A), RS1000063890 (5:147656118 G>A), RS1000063922 (5:147782667 A>G), RS1000101348 (5:147694205 C>A,T), RS1000112574 (5:147671953 C>A,T), RS1000123446 (5:147641215 A>G), RS1000125747 (5:147608858 C>T), RS1000135229 (5:147751318 T>A,G), RS1000141184 (5:147611642 C>T), RS1000150575 (5:147605189 T>G), RS1000155280 (5:147752374 A>G), RS1000186785 (5:147691058 C>A), RS1000190983 (5:147721469 G>C), RS1000199096 (5:147648299 G>A)

Disease associations

OMIM: gene MIM:611197 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004068_39	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	2.000000e-06
GCST004105_3	Body mass index (change over time) in chronic obstructive pulmonary disease	2.000000e-06
GCST004860_95	Alcoholic chronic pancreatitis	3.000000e-15
GCST012041_2	Sleep activity levels	4.000000e-08
GCST012420_8	tricyclic pyrone compound response (IC50)	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005937	longitudinal BMI measurement
EFO:0600033	response to mitochondrial complex I inhibitor

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, decreases expression	4
Benzo(a)pyrene	decreases expression, increases methylation, affects methylation	3
methylmercuric chloride	decreases expression, increases expression	2
entinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	increases expression, affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Estradiol	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Triclosan	decreases expression	1
Urethane	decreases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.